Application of long polymerase chain reaction in the study of the LDL receptor gene

Abstract

Rødningen OK, Leren TP. Application of long polymerase chain reaction in the study of the LDL receptor gene. Scand J Clin Lab Invest 1996; 56: 93–96.

In this report we have applied an improved method of the polymerase chain reaction (PCR) in order to detect structural aberrations and point mutations in the low density lipoprotein receptor (LDLR) gene. Except from intron 1, we were able to amplify the entire gene in two fragments of 16.1 and 20.0 kb, respectively. We were also able to detect a 9.6-kb deletion, known as FH Helsinki, as well as a restriction fragment length polymorphism in the 2.7-kb intron 6. We conclude that PCR can almost completely replace Southern blot analysis in molecular genetic studies of the LDLR gene.

Key Words:

• familial hypercholesterolaemia
• LDL receptor
• long PCR
• mutations
• RFLP